FindMyKOL
Clinical trialNCT00001215Enrolling, by, invitationObservational

Genetic Studies of Lysosomal Storage Disorders

SponsorNational Human Genome Research Institute (NHGRI)Enrollment1,000Gaucher DiseaseLysosomal Storage DisordersParkinson Disease
View the registry record on ClinicalTrials.gov

Summary

The lay summary the sponsor registered on ClinicalTrials.gov.

The purpose of this study is to identify genetic, biochemical, and clinical factors that are associated with disease severity in people with Gaucher disease and other lysosomal storage disorders. There is a vast spectrum of clinical manifestations in people with Gaucher disease as well as other lysosomal storage disorders. This study will evaluate patients with lysosomal disorders on an outpatient or inpatient basis in order to better characterize the clinical, genetic, and pathophysiological features of these disorders. Participants will be re-evaluated on an annual basis.
clinicaltrials.gov ↗

Investigators

The overall officials registered on this study. Names that resolve to a FindMyKOL profile link to it; the rest are shown as registered.

  • Ellen Sidransky, M.D.

    National Human Genome Research Institute (NHGRI)

    Principal Investigator
    clinicaltrials.gov ↗

A profile link is shown only when the registered name resolves to a person record with a confident, namesake-checked match; ambiguous names stay unlinked.

Sites

1 registered facility, with the per-site recruitment status where the registry publishes one. ClinicalTrials.gov does not publish per-site enrollment counts.

United States
  • National Institutes of Health Clinical Center

    Bethesda, Maryland, United States

Site investigator names are published by ClinicalTrials.gov only while a study recruits, so completed studies list sites without them.

Drugs studied

No drug or biological interventions are in our data for this study. It may test a procedure, device or behavioral intervention, or the intervention list isn't in our current snapshot. See the registry record ↗. Why? →

Registration & key dates

Registry attributes as recorded on the ClinicalTrials.gov study record.

Start
8 Mar 1995
Primary completion
—
Completion
—
Last update posted
31 Jul 2026
Registered enrollment
1,000
Registry id
NCT00001215
clinicaltrials.gov ↗

Source: ClinicalTrials.gov, via the CTTI AACT database, data as of 24 Aug 2026. Registry facts are shown as registered by the study sponsor; FindMyKOL does not interpret them.